{
  "id": 2911,
  "label": "autosomal dominant polycystic liver disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000447",
  "properties": {
    "xrefs": [
      "DOID:0050770",
      "GARD:0009457",
      "HP:0006557",
      "ICD10CM:Q44.6",
      "ICD9:751.62",
      "MEDGEN:56388",
      "MedDRA:10010427",
      "MedDRA:10048834",
      "MedDRA:10083939",
      "NCIT:C82833",
      "OMIMPS:174050",
      "Orphanet:2924",
      "SCTID:72925005",
      "UMLS:C0158683",
      "icd11.foundation:1361740083",
      "icd11.foundation:423904268"
    ],
    "synonyms": [
      "AD polycystic liver disease",
      "ADPLD",
      "PCLD",
      "isolated congenital polycystic liver disease",
      "isolated polycystic liver disease",
      "polycystic liver disease",
      "congenital cystic liver disease",
      "congenital hepatic cyst",
      "fibrocystic liver disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 6878,
      "label": "liver disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:409",
          "EFO:0001421",
          "ICD10CM:K70-K77",
          "ICD9:573.8",
          "ICD9:573.9",
          "MEDGEN:893061",
          "MESH:D008107",
          "NCIT:C3196",
          "SCTID:235856003",
          "UMLS:C4021780",
          "icd11.foundation:1784240230"
        ],
        "synonyms": [
          "disease of liver",
          "disease or disorder of liver",
          "disorder of liver",
          "hepatic disease",
          "hepatic disorder",
          "liver and intrahepatic bile duct disorder",
          "liver disease",
          "liver disease or disorder",
          "liver disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the liver."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005154"
    }
  ],
  "children": [
    {
      "id": 9572,
      "label": "polycystic liver disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060980",
          "GARD:0024613",
          "MEDGEN:165781",
          "MedDRA:10010427",
          "MedDRA:10048834",
          "OMIM:174050",
          "SCTID:716196007",
          "UMLS:C0887850"
        ],
        "synonyms": [
          "isolated congenital polycystic liver disease",
          "isolated polycystic liver disease",
          "PCLD1",
          "nonsyndromic congenital polycystic liver disease",
          "nonsyndromic polycystic liver disease (disease)",
          "polycystic liver disease 1",
          "polycystic liver disease 1 with or without kidney cysts",
          "ADPCLD",
          "PCLD",
          "autosomal dominant polycystic liver disease",
          "isolated autosomal dominant polycystic liver disease",
          "polycystic liver disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008265"
    },
    {
      "id": 15842,
      "label": "polycystic liver disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060975",
          "GARD:0016174",
          "MEDGEN:934736",
          "OMIM:617004",
          "UMLS:C4310769"
        ],
        "synonyms": [
          "PCLD2",
          "polycystic liver disease 2",
          "polycystic liver disease 2; PCLD2",
          "polycystic liver disease type 2",
          "polycystic liver disease 2 with or without kidney cysts"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014860"
    },
    {
      "id": 23330,
      "label": "polycystic liver disease 4 with or without kidney cysts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060977",
          "GARD:0025896",
          "MEDGEN:1644991",
          "OMIM:617875",
          "UMLS:C4693479"
        ],
        "synonyms": [
          "polycystic liver disease 4 with or without kidney cysts",
          "PCLD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044327"
    },
    {
      "id": 23610,
      "label": "polycystic liver disease 3 with or without kidney cysts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060976",
          "GARD:0025967",
          "MEDGEN:1646969",
          "OMIM:617874",
          "UMLS:C4693472"
        ],
        "synonyms": [
          "polycystic liver disease 3 with or without kidney cysts",
          "PCLD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts."
      },
      "child_count": 0,
      "reference_id": "MONDO:0054743"
    },
    {
      "id": 24377,
      "label": "SEC61B-related polycystic liver disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026290"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0550003"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 6878,
      "label": "liver disorder"
    }
  ]
}